ETV6-RUNX1融合基因阳性儿童急性前体B淋巴细胞白血病的临床特征及预后分析  

Clinical features and prognosis of ETV6-RUNX1-positive childhood B-precursor acute lymphocyte leukemia

作　　者：郑湧智 潘丽丽[1] 李健[1] 陈再生[1] 华雪玲[1] 乐少华[1] 郑浩[1] 陈彩[1] 胡建达[2] Zheng Yongzhi;Pan Lili;Li Jian;Chen Zaisheng;Hua Xueling;Le Shaohua;Zheng Hao;Chen Cai;Hu Jianda(Department of Pediatric Hematology,Fujian Medical University Union Hospital,Fuzhou 350001,China;Department of Hematology,Fujian Institute of Hematology,Fujian Provincial Key Laboratory,Fujian Medical University Union Hospital,Fuzhou 350001,China)

机构地区：[1]福建医科大学附属协和医院小儿血液科,福州350001 [2]福建医科大学附属协和医院血液科,福建省血液病研究所,福建省血液病学重点实验室,福州350001

出　　处：《中华血液学杂志》2021年第1期45-51,共7页Chinese Journal of Hematology

基　　金：福建省血液医学中心建设项目(闽政办(2017)4号);福建省卫生计生中青年骨干人才培养项目(2018-ZQN-26);福建医科大学启航基金项目(2019QH1032)。

摘　　要：目的探讨ETV6-RUNX1融合基因阳性儿童急性前体B淋巴细胞白血病(B-ALL)的临床特征及预后。方法回顾性分析2011年4月至2020年5月福建医科大学附属协和医院小儿血液科收治的927例初诊B-ALL患儿的临床资料。根据ETV6-RUNX1检测结果,分为ETV6-RUNX1+组及ETV6-RUNX1-组,对比两组的临床特征及预后;182例ETV6-RUNX1+患儿规范治疗,其中144例接受中国儿童白血病协作组(CCLG)-ALL 2008方案治疗(CCLG-ALL 2008方案组),38例接受中国儿童癌症协作组(CCCG)-ALL 2015方案治疗(CCCG-ALL 2015方案组),对比两种方案的疗效、严重不良反应(SAE)发生率及治疗相关死亡(TRM)率。结果 927例B-ALL患儿中,189例(20.4%)ETV6-RUNX1阳性。ETV6-RUNX1+组初诊时有危险因素(年龄≥10岁或<1岁,WBC≥50×109/L)的患者比例均显著低于ETV6-RUNX1-组(P值分别为0.000和0.001),而泼尼松诱导试验反应良好、诱导化疗第15天或第19天微小残留病(MRD)<1%,以及诱导化疗第33天或第46天MRD<0.01%的患者比例显著高于ETV6-RUNX1-组(P值分别为0.001、0.028和0.004)。ETV6-RUNX1+组的5年无事件生存(EFS)及总生存(OS)率均显著高于ETV6-RUNX1-组(EFS:89.8%对83.2%,P=0.003;OS:90.2%对86.3%,P=0.030)。CCLG-ALL 2008组感染相关SAE发生率显著高于CCCG-ALL 2015组(27.1%对5.3%,P=0.004),TRM发生率也高于CCCG-ALL 2015组,但差异无统计学意义(4.9%对0,P=0.348)。结论 ETV6-RUNX1+儿童B-ALL初诊危险因素较少,早期治疗反应较好,复发率低,总体预后良好;适当减低化疗强度,可降低感染相关SAE及TRM发生率,并进一步提高该亚型ALL患儿的OS率。Objective To investigate the clinical features and prognosis of ETV6-RUNX1-positive childhood B-precursor acute lymphocyte leukemia(B-ALL).Methods The clinical data of 927 newly diagnosed children with B-ALL admitted to the Fujian Medical University Union Hospital from April 2011 to May 2020 were retrospectively analyzed.According to the results of ETV6-RUNX1 gene,the patients were divided into ETV6-RUNX1+and ETV6-RUNX1-groups.The clinical features and prognosis between the two groups were compared.Among the 182 children with ETV6-RUNX1+,144 patients received the Chinese Childhood Leukemia Collaborative Group(CCLG)-ALL 2008 protocol(CCLG-ALL 2008 group)and 38 received the China Childhood Cancer Collaborative Group(CCCG)-ALL2015 protocol(CCCG-ALL 2015 group).The efficacy,serious adverse effects(SAE)incidence,and treatment-related mortality(TRM)of the two groups were also compared.Results Of the 927 B-ALL patients,189(20.4%)were ETV6-RUNX1+.The proportion of patients with risk factors(age≥10 years or<1 year,white blood cell count≥50×109/L)in the ETV6-RUNX1+group was significantly lower than that in the ETV6-RUNX1-group(P=0.000,0.001,respectively),while the proportion of patients with good early response(good response to prednisone,d15 or d19 MRD<1%,and d33 or d46 MRD<0.01%in induction chemotherapy)in the ETV6-RUNX1+group was significantly higher than that in the ETV6-RUNX1-group(P=0.028,0.004,respectively).The 5-year EFS and OS of the ETV6-RUNX1+group were significantly higher than those of the ETV6-RUNX1-group(EFS:89.8%vs 83.2%,P=0.003;OS:90.2%vs 86.3%,P=0.030).The incidence of infection-related SAE and TRM was significantly higher than that of CCCG-ALL 2015 group.A statistical difference was observed between the incidence of infection-related SAE of the two groups(27.1%vs 5.3%,P=0.004),but no difference in TRM(4.9%vs 0,P=0.348).Conclusion ETV6-RUNX1+B-ALL children have fewer risk factors at diagnosis,better early response,lower recurrence rate,and good prognosis than that of ETV6-RUNX1-B-ALL children.Reducin

关 键 词：ETV6-RUNX1融合基因 白血病 淋巴细胞 急性 儿童 预后 

分 类 号：R733.71[医药卫生—肿瘤]